Canonical Allele Identifier: CA2038991419
Gene: CYP27B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57766475C= , CM000674.2:g.57766475C= GRCh38
NC_000012.11:g.58160258C= , CM000674.1:g.58160258C= GRCh37
NC_000012.10:g.56446525C= NCBI36
NG_007076.1:g.5719G=
NG_047060.1:g.10657G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000546609.2:n.108-278G=
ENST00000713544.1:c.196-278G= ENSP00000518840.1:n.196-278G=
ENST00000713545.1:c.196-278G= ENSP00000518841.1:n.196-278G=
ENST00000228606.9:c.196-278G= MANE Select ENSP00000228606.4:n.196-278G=
ENST00000228606.8:c.196-278G= ENSP00000228606.4:n.196-278G=
ENST00000546609.1:c.108-278G=
ENST00000547344.5:n.250-278G=
ENST00000552186.1:n.37G=
NM_000785.3:c.196-278G= NP_000776.1:n.196-278G=
NM_000785.4:c.196-278G= MANE Select NP_000776.1:n.196-278G=